Cushing’s Disease in a 7-Month-Old Girl due to a Tumor Producing Adrenocorticotropic Hormone and Thyreotropin-Secreting Hormone

List, Julian; Sobottka, Stephan B.; Huebner, Angela; Bonk, C.; Koy, J.; Pinzer, Thomas; Schackert, Gabriele

doi:10.1159/000028824

Cited by 11 publications

(10 citation statements)

References 16 publications

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“…In addition, based on the description in the reports, it was considered that three further cases probably represented PitB [13, 14, 17]. The clinical presentations and tumor histopathology of each PitB were strikingly similar, but the main predisposing genetic factors were not known.…”

Section: Introductionmentioning

confidence: 99%

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

et al. 2014

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Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1-associated tumor types. Pituitary blastoma (PitB) was identified as a distinct entity in 2008, and is a very rare, potentially lethal early childhood tumor of the pituitary gland. Since the discovery by our team of an inherited mutation in DICER1 in a child with PitB in 2011, we have identified 12 additional PitB cases. We aimed to determine the contribution of germ-line and somatic DICER1 mutations to PitB. We hypothesized that PitB is a pathognomonic feature of a germ-line DICER1 mutation and that each PitB will harbor a second somatic mutation in DICER1. Lymphocyte or saliva DNA samples ascertained from ten infants with PitB were screened and nine were found to harbor a heterozygous germ-line DICER1 mutation. We identified additional DICER1 mutations in nine of ten tested PitB tumor samples, eight of which were confirmed to be somatic in origin. Seven of these mutations occurred within the RNase IIIb catalytic domain, a domain essential to the generation of 5p miRNAs from the 5′ arm of miRNA-precursors. Germ-line DICER1 mutations are a major contributor to PitB. Second somatic DICER1 “hits” occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis.

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Section: Introductionmentioning

confidence: 99%

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

et al. 2014

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“…This observational study comprised a multi-institutional cohort of 17 patients with pituitary blastoma: updating 14 previously described cases (1)(2)(3)(4)(20)(21)(22)(23)(24)(25)(26)(27)(28) and fully characterizing three additional cases (16)(17)(18). Cases were identified by ongoing literature review, inquiries to leading pituitary experts and case referrals.…”

Section: Design and Study Cohortmentioning

confidence: 99%

“…Since the reports by Sahakitrungruang et al (1 case) and de Kock et al (13 cases), three additional cases of pituitary blastoma have been thoroughly investigated (1)(2)(3)(4)(16)(17)(18)(20)(21)(22)(23)(24)(25)(26)(27)(28). In 2010, Salunke et al reported a 2-month-old female with Cushingoid stigmata since birth, ophthalmoplegia, hemiparesis, and a pituitary tumor diagnosed as a "congenital immature teratoma" (Case 17; Table 1) (30,31); the pathology on review was consistent with pituitary blastoma (16).…”

Section: Recently Investigated Cases Of Pituitary Blastomamentioning

confidence: 99%

Clinical outcomes and complications of pituitary blastoma

Liu¹,

Kelsey²,

Sabbaghian³

et al. 2021

ESPE

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Context: Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.Objective: To describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.Design and Setting: Multi-institutional case series from tertiary pediatric oncology centers.Patients: Children with pituitary blastoma.

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“…TSHomas usually secrete alpha-subunit of the glycoprotein hormones (α-SU) and less frequently growth hormone (GH) and/or prolactin (PRL), ACTH, and FSH/LH [5]. Until now, only nineteen paediatric cases have been proven to have pituitary TSHoma in the literature [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24]. Almost all of them had macroadenoma and presented with symptoms of hyperthyroidism and/or goitre [6,8,[10][11][12][13][14][15][16][17][18][19][20][21][22]24].…”

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confidence: 99%

Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature

et al. 2023

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Introduction: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours, present with elevated thyroid hormones and normal/high TSH concentrations. Case Presentation: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3 and TSH levels. Initial evaluation revealed an elevated -subunit.Pituitary MRI demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for one year after TSS, then, recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but, due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE PET/CT showed residual tissue extending from the pituitary region to the sphenoid sinus. The patient’s bone age was advanced 2 years at diagnosis which became 4 years in one year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. Conclusion: The diagnosis, treatment, and follow-up of TSHomas are challenging and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.

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Cushing’s Disease in a 7-Month-Old Girl due to a Tumor Producing Adrenocorticotropic Hormone and Thyreotropin-Secreting Hormone

Cited by 11 publications

References 16 publications

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Clinical outcomes and complications of pituitary blastoma

Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature

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